Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations

Intellectual disability without epilepsy associated with STXBP1 disruption

(2011) Fadi F Hamdan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern

(2010) Hirotomo Saitsu et al.   EPILEPSIA

STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome-Result of Japanese cohort study

(2010) Motoko Otsuka et al.   EPILEPSIA

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

(2010) Anne T. Berg et al.   EPILEPSIA

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations

(2010) L. Deprez et al.   NEUROLOGY

De novoSTXBP1mutations in mental retardation and nonsyndromic epilepsy

(2009) Fadi F. Hamdan et al.   ANNALS OF NEUROLOGY

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

(2008) Hirotomo Saitsu et al.   NATURE GENETICS